Variant report

Variant	rs6671810
Chromosome Location	chr1:173724442-173724443
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173720884..173724693-chr1:173791444..173794240,3	K562	blood:

Variant related genes	Relation type
ENSG00000117593	Chromatin interaction
ENSG00000120334	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16846493	1.00[AMR][1000 genomes]
rs61738616	0.83[AMR][1000 genomes]
rs6425269	0.83[AMR][1000 genomes]
rs6661829	0.95[AFR][1000 genomes]
rs6667235	1.00[AMR][1000 genomes]
rs6678061	1.00[AMR][1000 genomes]
rs7522580	0.83[AMR][1000 genomes]
rs7554635	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv3598	chr1:173693027-173738687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173685200-173724600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:173685400-173725000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:173685800-173724800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:173686800-173725400	Weak transcription	Right Ventricle	heart
5	chr1:173694600-173724800	Weak transcription	HMEC	breast
6	chr1:173695400-173726000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:173695800-173725000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:173695800-173726000	Weak transcription	Esophagus	oesophagus
9	chr1:173695800-173729800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:173696200-173726000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:173698000-173724800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:173699600-173725800	Weak transcription	Fetal Kidney	kidney
13	chr1:173703400-173725000	Weak transcription	Colonic Mucosa	Colon
14	chr1:173703400-173725000	Weak transcription	Psoas Muscle	Psoas
15	chr1:173703400-173726000	Weak transcription	Aorta	Aorta
16	chr1:173703400-173726000	Weak transcription	Spleen	Spleen
17	chr1:173703400-173726000	Weak transcription	NHEK	skin
18	chr1:173703600-173724800	Weak transcription	Pancreas	Pancrea
19	chr1:173703800-173728200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:173704200-173725000	Weak transcription	NHLF	lung
21	chr1:173704400-173725000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:173704400-173725200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:173705400-173724800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:173705600-173724800	Weak transcription	Brain Angular Gyrus	brain
25	chr1:173705800-173725400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:173710200-173726000	Weak transcription	Brain Germinal Matrix	brain
27	chr1:173711600-173724800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:173713400-173731600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:173718600-173725000	Weak transcription	NHDF-Ad	bronchial
30	chr1:173718800-173725800	Weak transcription	A549	lung
31	chr1:173719200-173724800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:173720000-173724800	Weak transcription	Fetal Brain Male	brain
33	chr1:173720000-173730000	Strong transcription	Primary B cells from cord blood	blood
34	chr1:173720000-173730600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:173720200-173727400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:173720200-173728000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr1:173720200-173729000	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:173720200-173729000	Strong transcription	Dnd41	blood
39	chr1:173720200-173729600	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:173720200-173729800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:173720200-173730000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr1:173720200-173730200	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr1:173720400-173726000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:173720400-173727000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:173720400-173729800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:173720600-173728000	Weak transcription	Stomach Mucosa	stomach
47	chr1:173720600-173728600	Strong transcription	Hela-S3	cervix
48	chr1:173720600-173729000	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:173720800-173727200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr1:173720800-173728800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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